Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.3389/fvets.2022.973854 http://hdl.handle.net/11449/249681 |
Resumo: | Progressive retinal atrophy (PRA) is a term used in veterinary medicine to describe inherited and progressive retinal diseases characterized by progressive retinal degeneration and loss of vision. In the Golden Retriever (GR) breed, the mutations associated with PRA have an autosomal recessive inheritance pattern. This study aimed to verify the allele frequencies of PRA1, PRA2, and PRA-prcd in the GR breed in Brazil. A total of 121 GR DNA samples (n = 66 females and n = 55 males) were analyzed. All animals assessed in this study were identified as wild-type (121/121 animals; 100%) for PRA1 and PRA2 mutations; therefore, no carrier or homozygous animals were identified in this population. For the PRA-prcd mutation, 118 animals (118/121 animals; 97.52%) were wild-type. Three animals were genotyped as heterozygous for PRA-prcd (3/121 animals; 2.47%), demonstrating that this mutation is still present in some bloodlines and animals in Brazil, even with a rare prevalence. Five animals (5/121 animals, 4.2%) had a previous eye disease, which was diagnosed by a veterinarian as entropion (2 animals), keratoconjunctivitis sicca (1 animal), corneal ulcer (1 animal), and bilateral blindness (1 animal). This dog with bilateral blindness was identified as wild type homozygous for three mutations assessed in this study; therefore, blindness was not associated with the investigated mutations. In addition, the vast majority (98.3%) of Brazilian breeders assessed in this study were unaware of these mutations as a cause of blindness in the Golden Retriever. Therefore, the present study will serve to disseminate knowledge about PRA and its genetic etiologies, as well as to support future studies with other Brazilian GR populations. |
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Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazilcanine PRADNA sequence analysisgenetic diseaseloss of visionprevalence studyretinal diseasesProgressive retinal atrophy (PRA) is a term used in veterinary medicine to describe inherited and progressive retinal diseases characterized by progressive retinal degeneration and loss of vision. In the Golden Retriever (GR) breed, the mutations associated with PRA have an autosomal recessive inheritance pattern. This study aimed to verify the allele frequencies of PRA1, PRA2, and PRA-prcd in the GR breed in Brazil. A total of 121 GR DNA samples (n = 66 females and n = 55 males) were analyzed. All animals assessed in this study were identified as wild-type (121/121 animals; 100%) for PRA1 and PRA2 mutations; therefore, no carrier or homozygous animals were identified in this population. For the PRA-prcd mutation, 118 animals (118/121 animals; 97.52%) were wild-type. Three animals were genotyped as heterozygous for PRA-prcd (3/121 animals; 2.47%), demonstrating that this mutation is still present in some bloodlines and animals in Brazil, even with a rare prevalence. Five animals (5/121 animals, 4.2%) had a previous eye disease, which was diagnosed by a veterinarian as entropion (2 animals), keratoconjunctivitis sicca (1 animal), corneal ulcer (1 animal), and bilateral blindness (1 animal). This dog with bilateral blindness was identified as wild type homozygous for three mutations assessed in this study; therefore, blindness was not associated with the investigated mutations. In addition, the vast majority (98.3%) of Brazilian breeders assessed in this study were unaware of these mutations as a cause of blindness in the Golden Retriever. Therefore, the present study will serve to disseminate knowledge about PRA and its genetic etiologies, as well as to support future studies with other Brazilian GR populations.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)School of Veterinary Medicine and Animal Science São Paulo State University (UNESP)Zootechnics Department School of Agronomy Federal University of Rio Grande do Sul (UFRGS)School of Veterinary Medicine and Animal Science São Paulo State University (UNESP)FAPESP: 20/15284-8Universidade Estadual Paulista (UNESP)Federal University of Rio Grande do Sul (UFRGS)Trecenti-Santana, Anelize Souza [UNESP]Guiraldelli, Giulia Gumiero [UNESP]Albertino, Lukas Garrido [UNESP]Ferreira, Julia Franco [UNESP]Andrade, Fabiana MichelsenBorges, Alexandre Secorun [UNESP]Oliveira-Filho, José Paes [UNESP]2023-07-29T16:06:20Z2023-07-29T16:06:20Z2022-10-17info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.3389/fvets.2022.973854Frontiers in Veterinary Science, v. 9.2297-1769http://hdl.handle.net/11449/24968110.3389/fvets.2022.9738542-s2.0-85148570880Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengFrontiers in Veterinary Scienceinfo:eu-repo/semantics/openAccess2023-07-29T16:06:20Zoai:repositorio.unesp.br:11449/249681Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T13:38:04.368927Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
title |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
spellingShingle |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil Trecenti-Santana, Anelize Souza [UNESP] canine PRA DNA sequence analysis genetic disease loss of vision prevalence study retinal diseases |
title_short |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
title_full |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
title_fullStr |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
title_full_unstemmed |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
title_sort |
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil |
author |
Trecenti-Santana, Anelize Souza [UNESP] |
author_facet |
Trecenti-Santana, Anelize Souza [UNESP] Guiraldelli, Giulia Gumiero [UNESP] Albertino, Lukas Garrido [UNESP] Ferreira, Julia Franco [UNESP] Andrade, Fabiana Michelsen Borges, Alexandre Secorun [UNESP] Oliveira-Filho, José Paes [UNESP] |
author_role |
author |
author2 |
Guiraldelli, Giulia Gumiero [UNESP] Albertino, Lukas Garrido [UNESP] Ferreira, Julia Franco [UNESP] Andrade, Fabiana Michelsen Borges, Alexandre Secorun [UNESP] Oliveira-Filho, José Paes [UNESP] |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (UNESP) Federal University of Rio Grande do Sul (UFRGS) |
dc.contributor.author.fl_str_mv |
Trecenti-Santana, Anelize Souza [UNESP] Guiraldelli, Giulia Gumiero [UNESP] Albertino, Lukas Garrido [UNESP] Ferreira, Julia Franco [UNESP] Andrade, Fabiana Michelsen Borges, Alexandre Secorun [UNESP] Oliveira-Filho, José Paes [UNESP] |
dc.subject.por.fl_str_mv |
canine PRA DNA sequence analysis genetic disease loss of vision prevalence study retinal diseases |
topic |
canine PRA DNA sequence analysis genetic disease loss of vision prevalence study retinal diseases |
description |
Progressive retinal atrophy (PRA) is a term used in veterinary medicine to describe inherited and progressive retinal diseases characterized by progressive retinal degeneration and loss of vision. In the Golden Retriever (GR) breed, the mutations associated with PRA have an autosomal recessive inheritance pattern. This study aimed to verify the allele frequencies of PRA1, PRA2, and PRA-prcd in the GR breed in Brazil. A total of 121 GR DNA samples (n = 66 females and n = 55 males) were analyzed. All animals assessed in this study were identified as wild-type (121/121 animals; 100%) for PRA1 and PRA2 mutations; therefore, no carrier or homozygous animals were identified in this population. For the PRA-prcd mutation, 118 animals (118/121 animals; 97.52%) were wild-type. Three animals were genotyped as heterozygous for PRA-prcd (3/121 animals; 2.47%), demonstrating that this mutation is still present in some bloodlines and animals in Brazil, even with a rare prevalence. Five animals (5/121 animals, 4.2%) had a previous eye disease, which was diagnosed by a veterinarian as entropion (2 animals), keratoconjunctivitis sicca (1 animal), corneal ulcer (1 animal), and bilateral blindness (1 animal). This dog with bilateral blindness was identified as wild type homozygous for three mutations assessed in this study; therefore, blindness was not associated with the investigated mutations. In addition, the vast majority (98.3%) of Brazilian breeders assessed in this study were unaware of these mutations as a cause of blindness in the Golden Retriever. Therefore, the present study will serve to disseminate knowledge about PRA and its genetic etiologies, as well as to support future studies with other Brazilian GR populations. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-10-17 2023-07-29T16:06:20Z 2023-07-29T16:06:20Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.3389/fvets.2022.973854 Frontiers in Veterinary Science, v. 9. 2297-1769 http://hdl.handle.net/11449/249681 10.3389/fvets.2022.973854 2-s2.0-85148570880 |
url |
http://dx.doi.org/10.3389/fvets.2022.973854 http://hdl.handle.net/11449/249681 |
identifier_str_mv |
Frontiers in Veterinary Science, v. 9. 2297-1769 10.3389/fvets.2022.973854 2-s2.0-85148570880 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Frontiers in Veterinary Science |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1808128255727763456 |